rs2479505

Homo sapiens
T>A / T>C / T>G
GPR12 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0196 (5873/29958,GnomAD)
T==0189 (5503/29116,TOPMED)
T==0110 (553/5008,1000G)
T==0217 (837/3854,ALSPAC)
T==0211 (781/3708,TWINSUK)
chr13:26756816 (GRCh38.p7) (13q12.13)
AD
GWASdb2
1   publication(s)
See rs on genome
84 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.26756816T>A
GRCh38.p7 chr 13NC_000013.11:g.26756816T>C
GRCh38.p7 chr 13NC_000013.11:g.26756816T>G
GRCh37.p13 chr 13NC_000013.10:g.27330953T>A
GRCh37.p13 chr 13NC_000013.10:g.27330953T>C
GRCh37.p13 chr 13NC_000013.10:g.27330953T>G

Gene: GPR12, G protein-coupled receptor 12(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GPR12 transcriptNM_005288.3:c.N/A3 Prime UTR Variant
GPR12 transcript variant X1XM_005266360.3:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.173G=0.827
1000GenomesAmericanSub694T=0.090G=0.910
1000GenomesEast AsianSub1008T=0.014G=0.986
1000GenomesEuropeSub1006T=0.199G=0.801
1000GenomesGlobalStudy-wide5008T=0.110G=0.890
1000GenomesSouth AsianSub978T=0.050G=0.950
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.217G=0.783
The Genome Aggregation DatabaseAfricanSub8722T=0.172G=0.828
The Genome Aggregation DatabaseAmericanSub838T=0.100G=0.900
The Genome Aggregation DatabaseEast AsianSub1620T=0.010G=0.990
The Genome Aggregation DatabaseEuropeSub18476T=0.229G=0.770
The Genome Aggregation DatabaseGlobalStudy-wide29958T=0.196G=0.804
The Genome Aggregation DatabaseOtherSub302T=0.120G=0.880
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.189G=0.811
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.211G=0.789
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs24795051.22E-05alcohol consumption23953852

eQTL of rs2479505 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr13:27330953GPR12ENSG00000132975.6T>G8.5134e-15-3969Cerebellum
Chr13:27330953GPR12ENSG00000132975.6T>G1.9035e-7-3969Cerebellar_Hemisphere

meQTL of rs2479505 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr135064290650643101E067-1374
chr135064522750646018E067752
chr135064607750646645E0671602
chr135065770050658282E06713225
chr135068893650689005E06744461
chr135068906250689199E06744587
chr135068923050689286E06744755
chr135068954150689667E06745066
chr135068981750690056E06745342
chr135060333350603412E068-41063
chr135064522750646018E068752
chr135066582050665922E06821345
chr135066597050666384E06821495
chr135066640650666507E06821931
chr135068047650680675E06836001
chr135068068650681619E06836211
chr135064522750646018E069752
chr135068179650682010E06937321
chr135068863350688750E06944158
chr135068881350688876E06944338
chr135068893650689005E06944461
chr135068906250689199E06944587
chr135068923050689286E06944755
chr135069367650694088E06949201
chr135062773750627817E070-16658
chr135062784150627881E070-16594
chr135063465050634705E070-9770
chr135063484350634921E070-9554
chr135065891550659810E07014440
chr135066499350665081E07020518
chr135066520150665256E07020726
chr135066597050666384E07021495
chr135068954150689667E07045066
chr135068981750690056E07045342
chr135064373150643811E071-664
chr135064381650644036E071-439
chr135064522750646018E071752
chr135064607750646645E0711602
chr135065770050658282E07113225
chr135065891550659810E07114440
chr135066499350665081E07120518
chr135066520150665256E07120726
chr135066562150665671E07121146
chr135066582050665922E07121345
chr135066597050666384E07121495
chr135068068650681619E07136211
chr135068863350688750E07144158
chr135068881350688876E07144338
chr135068893650689005E07144461
chr135068906250689199E07144587
chr135068923050689286E07144755
chr135068954150689667E07145066
chr135068981750690056E07145342
chr135064373150643811E072-664
chr135064381650644036E072-439
chr135068881350688876E07244338
chr135068893650689005E07244461
chr135068906250689199E07244587
chr135068923050689286E07244755
chr135068954150689667E07245066
chr135065891550659810E07314440
chr135069367650694088E07349201
chr135063465050634705E074-9770
chr135064272650642856E074-1619
chr135064290650643101E074-1374
chr135065041450650528E0745939
chr135065053850650625E0746063
chr135065069850651108E0746223
chr135065891550659810E07414440
chr135068047650680675E07436001
chr135068068650681619E07436211
chr135068179650682010E07437321
chr135068863350688750E07444158
chr135068881350688876E07444338
chr135068893650689005E07444461
chr135068906250689199E07444587
chr135068923050689286E07444755
chr135068954150689667E07445066
chr135068981750690056E07445342
chr135069052550690581E07446050
chr135069367650694088E07449201
chr135065770050658282E08113225
chr135065843450658572E08113959
chr135069367650694088E08149201









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr135065207550657436E0677600
chr135065207550657436E0687600
chr135065207550657436E0697600
chr135065207550657436E0707600
chr135065207550657436E0717600
chr135065207550657436E0727600
chr135065207550657436E0737600
chr135065207550657436E0747600
chr135065207550657436E0817600
chr135065207550657436E0827600